Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000113591 | SCV000301050 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000113591 | SCV000327433 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000484644 | SCV000564790 | pathogenic | not provided | 2015-02-16 | criteria provided, single submitter | clinical testing | This deletion of 2 nucleotides in BRCA2 is denoted c.6449_6450delAA at the cDNA level and p.Lys2150SerfsX25 (K2150SfsX25) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ATTA[AA]GTTT. The deletion causes a frameshift, which changes a Lysine to a Serine at codon 2150, and creates a premature stop codon at position 25 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.6449_6450delAA, previously reported as 6677_6678delAA, has been observed in association with breast and/or ovarian cancer (Foretova 2004). we consider this variant to be pathogenic. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590435 | SCV000694973 | pathogenic | Hereditary breast ovarian cancer syndrome | 2017-02-03 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.6449_6450delAA (p.Lys2150Serfs) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 118150 control chromosomes. Multiple publications cite this variant in affected individuals. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Breast Cancer Information Core |
RCV000113591 | SCV000146858 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2005-09-27 | no assertion criteria provided | clinical testing | |
CZECANCA consortium | RCV001271046 | SCV001451865 | pathogenic | Breast and/or ovarian cancer | 2019-06-11 | no assertion criteria provided | clinical testing |